Dataset Information

Juvenile Huntington's disease: a population-based study using the General Practice Research Database.

ABSTRACT: BACKGROUND:The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world. The present study was undertaken to estimate the frequency of juvenile HD in the UK and to examine the range of pharmacological treatments used in its management. METHOD:The records of individuals under the age of 21 who had recorded diagnoses of HD were retrieved from the General Practice Research Database from 1990 through 2010. From these data estimates of incidence and prevalence were made as well as the specific treatments used in the treatment of its physical and psychological manifestations. RESULTS:12 incident and 21 prevalent patients with juvenile HD were identified. The 21 prevalent cases included the 12 incident cases. The minimum population-based estimate of incidence is 0.70 (95% CI 0.36 to 1.22) per million patient-years. The minimum estimate of prevalence is 6.77/million (95% CI 5.60 to 8.12) per million patient-years. Patients were most frequently prescribed antidepressants, hypnotics, antipsychotics and treatments for motor abnormalities. CONCLUSIONS:In the UK, juvenile HD is an extremely rare and complex disorder. The prescribing data demonstrate that the clinical management of juvenile HD is undertaken with no formal evidence base for the efficacy or safety of the treatments used. Research into the safety and efficacy of appropriate therapies is urgently required to offset the haphazard nature of prescribing. Multinational collaboration will be necessary to enrol sufficient numbers. Exploratory studies, though, should begin now.

SUBMITTER: Douglas I

PROVIDER: S-EPMC3641420 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Juvenile Huntington's disease: a population-based study using the General Practice Research Database.

Douglas Ian I Evans Stephen S Rawlins Michael D MD Smeeth Liam L Tabrizi Sarah J SJ Wexler Nancy S NS

BMJ open 20130403 4

<h4>Background</h4>The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world. The present study was undertaken to estimate the frequency of juvenile HD in the UK and to examine the range of pharmacological treatments used in its management.<h4>Method</h4>The records of individuals under the age of 21 who had recorded diagnoses of HD were retrieved from the General Practice Resear ...[more]

PMID: 23558730

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Project description:ObjectiveTo explore the reasons behind the recent increase in antidepressant prescribing in the United Kingdom. Design Detailed retrospective analysis of data on general practitioner consultations and antidepressant prescribing. Data source Data were obtained from the general practice research database, which contains linked anonymised records of over 3 million patients registered in the UK. Data were extracted for all new incident cases of depression between 1993 and 2005. Review methods Detailed analysis of general practitioner consultations and antidepressant prescribing was restricted to 170 practices that were contributing data for the full duration of the study.ResultsIn total, 189 851 people within the general practice research database experienced their first episode of depression between 1993 and 2005, of whom 150,825 (79.4%) received a prescription for antidepressants in the first year of diagnosis. This proportion remained stable across all the years examined. The incidence of new cases of depression rose in young women but fell slightly in other groups such that overall incidence increased then declined slightly (men: 7.83 cases per 1000 patient years in 1993 to 5.97 in 2005, women: 15.83 cases per 1000 patient years in 1993 to 10.06 in 2005). Antidepressant prescribing nearly doubled during the study period-the average number of prescriptions issued per patient increased from 2.8 in 1993 to 5.6 in 2004. The majority of antidepressant prescriptions were given as long term treatment or as intermittent treatment to patients with multiple episodes of depression.ConclusionsThe rise in antidepressant prescribing is mainly explained by small changes in the proportion of patients receiving long term treatment. Previous clinical guidelines have focused on antidepressant initiation and appropriate targeting of antidepressants. To address the costly rise in antidepressant prescribing, future research and guidance needs to concentrate on appropriate long term prescribing for depression and regular review of medication.

Project description:BackgroundPatients diagnosed with cancer by the emergency route often have more advanced diseases and poorer outcomes. Rates of cancer diagnosed through unplanned admissions vary within and between countries, suggesting potential inconsistencies in the quality of care. To reduce diagnoses by this route and improve patient outcomes, high risk patient groups must be identified. This cross-sectional observational study determined the incidence of first-ever diagnoses of cancer by emergency (unplanned) admission and identified patient-level risk factors for these diagnoses in England.MethodsData for 74,763 randomly selected patients at 457 general practices between 1999 and 2008 were obtained from the General Practice Research Database (GPRD), including integrated Hospital Episode Statistics (HES) data and Office for National Statistics (ONS) mortality data. The proportion of first-ever diagnoses by emergency admission out of all recorded first cancer diagnoses by any route was analysed by patient characteristics.ResultsDiagnosis by emergency admission was recorded in 13.9% of patients diagnosed with cancer for the first time (n = 817/5870). The incidence of first cases by the emergency route was 2.51 patients per 10,000 person years. In adjusted regression analyses, patients of older age (p < 0.0001), living in the most deprived areas (RR 1.93, 95% CI 1.51 to 2.47; p < 0.0001) or who had a total Charlson score of 1 compared to 0 (RR 1.34, 95% CI 1.06 to 1.69; p = 0.014) were most at risk of diagnosis by emergency admission. Patients with more prior (all-cause) emergency admissions were less at risk of subsequent diagnosis by the emergency route (RR 0.31 per prior emergency admission, 95% CI 0.20 to 0.46; p < 0.0001).ConclusionsA much lower incidence of first-ever cancer diagnoses by emergency admission was found compared with previous studies. Identified high risk groups may benefit from interventions to reduce delayed diagnosis. Further studies should include screening and cancer staging data to improve understanding of delayed or untimely diagnosis and patient care pathways.

Project description:BackgroundHuntington's disease (HD) is a fatal progressive neurodegenerative disorder caused by the expansion of the polyglutamine repeat region in the huntingtin gene. Although the disease is triggered by the mutation of a single gene, intensive research has linked numerous other genes to its pathogenesis. To obtain a systematic overview of these genes, which may serve as therapeutic targets, CHDI Foundation has recently established the HD Research Crossroads database. With currently over 800 cataloged genes, this web-based resource constitutes the most extensive curation of genes relevant to HD. It provides us with an unprecedented opportunity to survey molecular mechanisms involved in HD in a holistic manner.MethodsTo gain a synoptic view of therapeutic targets for HD, we have carried out a variety of bioinformatical and statistical analyses to scrutinize the functional association of genes curated in the HD Research Crossroads database. In particular, enrichment analyses were performed with respect to Gene Ontology categories, KEGG signaling pathways, and Pfam protein families. For selected processes, we also analyzed differential expression, using published microarray data. Additionally, we generated a candidate set of novel genetic modifiers of HD by combining information from the HD Research Crossroads database with previous genome-wide linkage studies.ResultsOur analyses led to a comprehensive identification of molecular mechanisms associated with HD. Remarkably, we not only recovered processes and pathways, which have frequently been linked to HD (such as cytotoxicity, apoptosis, and calcium signaling), but also found strong indications for other potentially disease-relevant mechanisms that have been less intensively studied in the context of HD (such as the cell cycle and RNA splicing, as well as Wnt and ErbB signaling). For follow-up studies, we provide a regularly updated compendium of molecular mechanism, that are associated with HD, at http://hdtt.sysbiolab.eu Additionally, we derived a candidate set of 24 novel genetic modifiers, including histone deacetylase 3 (HDAC3), metabotropic glutamate receptor 1 (GRM1), CDK5 regulatory subunit 2 (CDK5R2), and coactivator 1ß of the peroxisome proliferator-activated receptor gamma (PPARGC1B).ConclusionsThe results of our study give us an intriguing picture of the molecular complexity of HD. Our analyses can be seen as a first step towards a comprehensive list of biological processes, molecular functions, and pathways involved in HD, and may provide a basis for the development of more holistic disease models and new therapeutics.

Dataset Information

Juvenile Huntington's disease: a population-based study using the General Practice Research Database.

Publications

Juvenile Huntington's disease: a population-based study using the General Practice Research Database.

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